When RNFL loss is not due to Glaucoma
Since our 7 yo appears to have pale discs without cupping and soft globes, glaucoma is effectively ruled out, but other non-glaucomatous optic neuropathies need to be considered as depicted above in the VITAMINES mnemonic. MRIs were obtained which were within normal limits. However, a detailed family history revealed an optic neuropathy, specifically Leber’s Hereditary Optic Neuropathy (LHON) with a point mutation at mt4360. Hence, our VITAMINES mnemonic was helpful in guiding the differential diagnosis and workup.
Although LHON is considered to be an acute onset disorder at an average age of 25, it can occur in the first decade of life with a subacute presentation.4 The entire family is in the process of being evaluated. A confirmed diagnosis of LHON is more important than ever since treatment may soon be available. (RR #38)